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Mutation:
STXBP2 R572C
Summary
Isoform:
Position:
572
Ref:
R
Mutation:
C
PTM impact:
distal
PTM affected:
2
Kinases:
CDK5
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hemophagocytic lymphohistiocytosis, familial, 5
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 569T
Affected site:
Position: 569
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 570L | IGSSHILT[P/L]PTRFLDD | 1 |
network-rewiring
|
| 572C | IGSSHILTPT[R/C]RFLDD | 3 |
distal
|
| 564F | IG[S/F]SSHILTPTRFLDD | 5 |
distal
|
| 564C | IG[S/C]SSHILTPTRFLDD | 5 |
distal
|
PTM Site: 578K
Affected site:
Position: 578
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 572C | T[R/C]RFLDDLKALDKKLE | 6 |
distal
|
| 578R | TRFLDDL[K/R]KALDKKLE | 0 |
direct
|
External references
dbSNP:
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